Incidental Mutation 'R9759:Insm2'
| ID |
732909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insm2
|
| Ensembl Gene |
ENSMUSG00000045440 |
| Gene Name |
insulinoma-associated 2 |
| Synonyms |
mlt 1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R9759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
55646212-55648818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55647390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 378
(T378M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051857]
[ENSMUST00000085385]
[ENSMUST00000110687]
[ENSMUST00000219432]
[ENSMUST00000220367]
[ENSMUST00000226244]
|
| AlphaFold |
Q9JMC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051857
AA Change: T378M
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: T378M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
136 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
203 |
223 |
1.98e2 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
7.15e-2 |
SMART |
|
low complexity region
|
341 |
349 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
354 |
376 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
1.02e1 |
SMART |
|
low complexity region
|
433 |
448 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
452 |
475 |
4.11e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085385
|
| SMART Domains |
Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
644 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1395 |
N/A |
INTRINSIC |
|
low complexity region
|
1784 |
1798 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
1824 |
2003 |
7.4e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110687
|
| SMART Domains |
Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
644 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1395 |
N/A |
INTRINSIC |
|
low complexity region
|
1784 |
1798 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
1824 |
2001 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220367
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226244
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
G |
T |
13: 119,615,989 (GRCm39) |
W508L |
probably damaging |
Het |
| Abt1 |
G |
T |
13: 23,606,439 (GRCm39) |
Q172K |
probably damaging |
Het |
| Aoah |
C |
A |
13: 21,000,738 (GRCm39) |
H57Q |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,756,242 (GRCm39) |
E34G |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,457,265 (GRCm39) |
R350Q |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,965,944 (GRCm39) |
H1691Y |
probably null |
Het |
| Doc2g |
A |
T |
19: 4,056,571 (GRCm39) |
H319L |
probably benign |
Het |
| Enah |
A |
C |
1: 181,841,911 (GRCm39) |
V6G |
unknown |
Het |
| Fam135b |
T |
G |
15: 71,335,689 (GRCm39) |
T502P |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,562,918 (GRCm39) |
S530P |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,252,938 (GRCm39) |
R628G |
possibly damaging |
Het |
| Hdac7 |
T |
C |
15: 97,699,989 (GRCm39) |
T614A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,672,256 (GRCm39) |
L32* |
probably null |
Het |
| Kctd3 |
G |
A |
1: 188,710,786 (GRCm39) |
T459M |
probably damaging |
Het |
| Khsrp |
A |
G |
17: 57,332,925 (GRCm39) |
L188P |
probably benign |
Het |
| Kynu |
A |
G |
2: 43,569,881 (GRCm39) |
I388V |
probably benign |
Het |
| Met |
T |
C |
6: 17,555,561 (GRCm39) |
V1090A |
probably damaging |
Het |
| Mier1 |
C |
T |
4: 103,019,725 (GRCm39) |
T483I |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,824,615 (GRCm39) |
S297P |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,341 (GRCm39) |
I259F |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,170,415 (GRCm39) |
L138P |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,938,546 (GRCm39) |
H575Q |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,492,465 (GRCm39) |
R953H |
probably benign |
Het |
| Sirt1 |
A |
G |
10: 63,156,516 (GRCm39) |
S705P |
probably benign |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Slc46a3 |
T |
C |
5: 147,823,234 (GRCm39) |
T203A |
probably benign |
Het |
| Snta1 |
G |
T |
2: 154,222,889 (GRCm39) |
T278K |
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,344,083 (GRCm39) |
D327G |
possibly damaging |
Het |
| Timm44 |
C |
A |
8: 4,317,707 (GRCm39) |
E205* |
probably null |
Het |
| Timm8a2 |
A |
T |
14: 122,272,216 (GRCm39) |
T40S |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,620,360 (GRCm39) |
N698S |
possibly damaging |
Het |
| Zik1 |
A |
C |
7: 10,223,716 (GRCm39) |
C460W |
possibly damaging |
Het |
| Zmynd8 |
A |
C |
2: 165,680,746 (GRCm39) |
I229S |
possibly damaging |
Het |
|
| Other mutations in Insm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
hawaii
|
UTSW |
12 |
55,646,621 (GRCm39) |
nonsense |
probably null |
|
|
Luau
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Insm2
|
UTSW |
12 |
55,647,225 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1166:Insm2
|
UTSW |
12 |
55,647,281 (GRCm39) |
missense |
probably benign |
|
|
R2508:Insm2
|
UTSW |
12 |
55,647,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3978:Insm2
|
UTSW |
12 |
55,647,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4716:Insm2
|
UTSW |
12 |
55,647,677 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4884:Insm2
|
UTSW |
12 |
55,646,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Insm2
|
UTSW |
12 |
55,646,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6067:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6078:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6424:Insm2
|
UTSW |
12 |
55,646,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Insm2
|
UTSW |
12 |
55,646,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Insm2
|
UTSW |
12 |
55,646,621 (GRCm39) |
nonsense |
probably null |
|
|
R7117:Insm2
|
UTSW |
12 |
55,647,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Insm2
|
UTSW |
12 |
55,647,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7289:Insm2
|
UTSW |
12 |
55,647,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7537:Insm2
|
UTSW |
12 |
55,646,303 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7831:Insm2
|
UTSW |
12 |
55,647,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Insm2
|
UTSW |
12 |
55,646,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Insm2
|
UTSW |
12 |
55,647,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U15987:Insm2
|
UTSW |
12 |
55,646,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Insm2
|
UTSW |
12 |
55,646,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Insm2
|
UTSW |
12 |
55,647,141 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGGCTCTAGTGTACCCG -3'
(R):5'- AATCTGCTGAGCGCTACCATC -3'
Sequencing Primer
(F):5'- CCCGAGGTGATTCTAGG -3'
(R):5'- TGAGCGCTACCATCGGATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation